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Items: 1 to 20 of 34

1.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
Gabrielle Lemire, Yoko A. Ito, Aren E. Marshall, Nicolas Chrestian, Valentina Stanley, Lauren Brady, Mark Tarnopolsky, Cynthia J. Curry, Taila Hartley, Wendy Mears, Alexa Derksen, Nadie Rioux, Nataly Laflamme, Harrol T. Hutchison, Lynn S. Pais, Maha S. Zaki, Tipu Sultan, Adrie D. Dane, Care4Rare Canada Consortium, Joseph G. Gleeson, Frédéric M. Vaz, Kristin D. Kernohan, Geneviève Bernard, Kym M. Boycott
Am J Hum Genet. 2021 Oct 7; 108(10): 2017–2023. Published online 2021 Sep 28. doi: 10.1016/j.ajhg.2021.09.005
PMCID:
PMC8546048
AbstractArticlePDF–853K
2.
Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease
Jun Xu, Weizhen Gu, Kai Ji, Zhao Xu, Haihua Zhu, Wenming Zheng
Open Biol. 2018 May; 8(5): 180017. Published online 2018 May 23. doi: 10.1098/rsob.180017
PMCID:
PMC5990648
AbstractArticlePDF–1.3M
3.
Human lymphocyte antigen B‐associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm
Yao‐Yuan Hsieh, Ying‐Ju Lin, Chi‐Chen Chang, Da‐Yuan Chen, Chin‐Mu Hsu, Ming‐Min Lo, Kung‐Hao Hsu, Fuu‐Jen Tsai
J Clin Lab Anal. 2010; 24(4): 262–268. Published online 2010 Jul 12. doi: 10.1002/jcla.20409
PMCID:
PMC6647560
AbstractArticlePDF–153K
4.
Mapping the neuroanatomy of ABHD16A–ABHD12 & lysophosphatidylserines provides new insights into the pathophysiology of the human neurological disorder PHARC
Shubham Singh, Alaumy Joshi, Siddhesh S. Kamat
Biochemistry. Author manuscript; available in PMC 2020 Dec 23.
Published in final edited form as: Biochemistry. 2020 May 28; 59(24): 2299–2311. Published online 2020 May 28. doi: 10.1021/acs.biochem.0c00349
PMCID:
PMC7311203
AbstractArticlePDF–3.8M
5.
Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay
Siddhesh S. Kamat, Kaddy Camara, William H. Parsons, Dong-Hui Chen, Melissa M. Dix, Thomas D. Bird, Amy R. Howell, Benjamin F. Cravatt
Nat Chem Biol. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Nat Chem Biol. 2015 Feb; 11(2): 164–171. Published online 2015 Jan 12. doi: 10.1038/nchembio.1721
PMCID:
PMC4301979
ArticlePDF–1.2M
6.
Biochemical and Pharmacological Characterization of the Human Lymphocyte Antigen B-Associated Transcript 5 (BAT5/ABHD16A)
Juha R. Savinainen, Jayendra Z. Patel, Teija Parkkari, Dina Navia-Paldanius, Joona J. T. Marjamaa, Tuomo Laitinen, Tapio Nevalainen, Jarmo T. Laitinen
PLoS One. 2014; 9(10): e109869. Published online 2014 Oct 7. doi: 10.1371/journal.pone.0109869
PMCID:
PMC4188605
AbstractArticlePDF–3.9M
7.
Human major histocompatibility complex contains a minimum of 19 genes between the complement cluster and HLA-B.
T Spies, M Bresnahan, J L Strominger
Proc Natl Acad Sci U S A. 1989 Nov; 86(22): 8955–8958. doi: 10.1073/pnas.86.22.8955
PMCID:
PMC298409
SummaryPage BrowsePDF–947K
8.
Identification of Protor as a novel Rictor-binding component of mTOR complex-2
Laura R. Pearce, Xu Huang, Jérôme Boudeau, Rafał Pawłowski, Stephan Wullschleger, Maria Deak, Adel F. M. Ibrahim, Robert Gourlay, Mark A. Magnuson, Dario R. Alessi
Biochem J. 2007 Aug 1; 405(Pt 3): 513–522. Prepublished online 2007 Apr 27. Published online 2007 Jul 13. doi: 10.1042/BJ20070540
PMCID:
PMC2267312
AbstractArticlePDF–833K
9.
An integrative method for scoring candidate genes from association studies: application to warfarin dosing
Nicholas P Tatonetti, Joel T Dudley, Hersh Sagreiya, Atul J Butte, Russ B Altman
BMC Bioinformatics. 2010; 11(Suppl 9): S9. Published online 2010 Oct 28. doi: 10.1186/1471-2105-11-S9-S9
PMCID:
PMC2967750
AbstractArticlePDF–368K
10.
Analysis of the Gene-Dense Major Histocompatibility Complex Class III Region and Its Comparison to Mouse
Tao Xie, Lee Rowen, Begoña Aguado, Mary Ellen Ahearn, Anup Madan, Shizhen Qin, R. Duncan Campbell, Leroy Hood
Genome Res. 2003 Dec; 13(12): 2621–2636. doi: 10.1101/gr.1736803
PMCID:
PMC403804
AbstractArticlePDF–901K
11.
Large-scale cDNA transfection screening for genes related to cancer development and progression
Dafang Wan, Yi Gong, Wenxin Qin, Pingping Zhang, Jinjun Li, Lin Wei, Xiaomei Zhou, Hongnian Li, Xiaokun Qiu, Fei Zhong, Liping He, Jian Yu, Genfu Yao, Huiqiu Jiang, Lianfang Qian, Ye Yu, Huiqun Shu, Xianlian Chen, Huili Xu, Minglei Guo, Zhimei Pan, Yan Chen, Chao Ge, Shengli Yang, Jianren Gu
Proc Natl Acad Sci U S A. 2004 Nov 2; 101(44): 15724–15729. Published online 2004 Oct 21. doi: 10.1073/pnas.0404089101
Correction in:
Proc Natl Acad Sci U S A. 2004 Dec 14; 101(50): 17565.
PMCID:
PMC524842
AbstractArticlePDF–245K
12.
HIV–host interactome revealed directly from infected cells
Yang Luo, Erica Y. Jacobs, Todd M. Greco, Kevin D. Mohammed, Tommy Tong, Sarah Keegan, James M. Binley, Ileana M. Cristea, David Fenyö, Michael P. Rout, Brian T. Chait, Mark A. Muesing
Nat Microbiol. Author manuscript; available in PMC 2016 Jul 1.
Published in final edited form as: Nat Microbiol. 2016 Jul; 1(7): 16068. Published online 2016 May 23. doi: 10.1038/nmicrobiol.2016.68
PMCID:
PMC4928716
AbstractArticlePDF–1.1M
13.
High-Density SNP Screening of the Major Histocompatibility Complex in Systemic Lupus Erythematosus Demonstrates Strong Evidence for Independent Susceptibility Regions
Lisa F. Barcellos, Suzanne L. May, Patricia P. Ramsay, Hong L. Quach, Julie A. Lane, Joanne Nititham, Janelle A. Noble, Kimberly E. Taylor, Diana L. Quach, Sharon A. Chung, Jennifer A. Kelly, Kathy L. Moser, Timothy W. Behrens, Michael F. Seldin, Glenys Thomson, John B. Harley, Patrick M. Gaffney, Lindsey A. Criswell
PLoS Genet. 2009 Oct; 5(10): e1000696. Published online 2009 Oct 23. doi: 10.1371/journal.pgen.1000696
PMCID:
PMC2758598
AbstractArticlePDF–323K
14.
A proteome-scale map of the SARS-CoV-2–human contactome
Dae-Kyum Kim, Benjamin Weller, Chung-Wen Lin, Dayag Sheykhkarimli, Jennifer J. Knapp, Guillaume Dugied, Andreas Zanzoni, Carles Pons, Marie J. Tofaute, Sibusiso B. Maseko, Kerstin Spirohn, Florent Laval, Luke Lambourne, Nishka Kishore, Ashyad Rayhan, Mayra Sauer, Veronika Young, Hridi Halder, Nora Marín-de la Rosa, Oxana Pogoutse, Alexandra Strobel, Patrick Schwehn, Roujia Li, Simin T. Rothballer, Melina Altmann, Patricia Cassonnet, Atina G. Coté, Lena Elorduy Vergara, Isaiah Hazelwood, Betty B. Liu, Maria Nguyen, Ramakrishnan Pandiarajan, Bushra Dohai, Patricia A. Rodriguez Coloma, Juline Poirson, Paolo Giuliana, Luc Willems, Mikko Taipale, Yves Jacob, Tong Hao, David E. Hill, Christine Brun, Jean-Claude Twizere, Daniel Krappmann, Matthias Heinig, Claudia Falter, Patrick Aloy, Caroline Demeret, Marc Vidal, Michael A. Calderwood, Frederick P. Roth, Pascal Falter-Braun
Nat Biotechnol. 2023; 41(1): 140–149. Published online 2022 Oct 10. doi: 10.1038/s41587-022-01475-z
PMCID:
PMC9849141
AbstractArticlePDF–7.1M
15.
Polymorphisms in innate immunity genes and risk of childhood leukemia
Sohee Han, Qing Lan, Ae Kyung Park, Kyoung-Mu Lee, Sue K. Park, Hyo Seop Ahn, Hee Young Shin, Hyoung Jin Kang, Hong Hoe Koo, Jong Jin Seo, Ji Eun Choi, Yoon-Ok Ahn, Stephen J. Chanock, Ho Kim, Nathaniel Rothman, Daehee Kang
Hum Immunol. Author manuscript; available in PMC 2010 Nov 2.
Published in final edited form as: Hum Immunol. 2010 Jul; 71(7): 727–730. Published online 2010 May 16. doi: 10.1016/j.humimm.2010.04.004
PMCID:
PMC2967770
AbstractArticlePDF–306K
16.
Risk of Meningioma and Common Variation in Genes related to Innate Immunity
Preetha Rajaraman, Alina V. Brenner, Gila Neta, Ruth Pfeiffer, Sophia S. Wang, Meredith Yeager, Gilles Thomas, Howard A. Fine, Martha S. Linet, Nathaniel Rothman, Stephen J. Chanock, Peter D. Inskip
Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2011 Sep 7.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2010 May; 19(5): 1356–1361. Published online 2010 Apr 20. doi: 10.1158/1055-9965.EPI-09-1151
PMCID:
PMC3169167
AbstractArticlePDF–61K
17.
Common Variation in Genes Related to Innate Immunity and Risk of Adult Glioma
Preetha Rajaraman, Alina V. Brenner, Mary Ann Butler, Sophia S. Wang, Ruth M. Pfeiffer, Avima M. Ruder, Martha S. Linet, Meredith Yeager, Zhaoming Wang, Nick Orr, Howard A. Fine, Deukwoo Kwon, Gilles Thomas, Nathaniel Rothman, Peter D. Inskip, Stephen J. Chanock
Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2010 May 1.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2009 May; 18(5): 1651–1658. doi: 10.1158/1055-9965.EPI-08-1041
PMCID:
PMC2771723
AbstractArticlePDF–392K
18.
A Protein Interaction Framework for Human mRNA Degradation
Ben Lehner, Christopher M. Sanderson
Genome Res. 2004 Jul; 14(7): 1315–1323. doi: 10.1101/gr.2122004
PMCID:
PMC442147
AbstractArticlePDF–272K
19.
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu
Nat Genet. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z
PMCID:
PMC6314957
AbstractArticlePDF–1.3M
20.
Assessment of community efforts to advance network-based prediction of protein–protein interactions
Xu-Wen Wang, Lorenzo Madeddu, Kerstin Spirohn, Leonardo Martini, Adriano Fazzone, Luca Becchetti, Thomas P. Wytock, István A. Kovács, Olivér M. Balogh, Bettina Benczik, Mátyás Pétervári, Bence Ágg, Péter Ferdinandy, Loan Vulliard, Jörg Menche, Stefania Colonnese, Manuela Petti, Gaetano Scarano, Francesca Cuomo, Tong Hao, Florent Laval, Luc Willems, Jean-Claude Twizere, Marc Vidal, Michael A. Calderwood, Enrico Petrillo, Albert-László Barabási, Edwin K. Silverman, Joseph Loscalzo, Paola Velardi, Yang-Yu Liu
Nat Commun. 2023; 14: 1582. Published online 2023 Mar 22. doi: 10.1038/s41467-023-37079-7
PMCID:
PMC10033937
AbstractArticlePDF–1.5M

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